Mutagenetix > Incidental Mutation

Incidental Mutation 'R1717:Chmp4b'

191094

Institutional Source

Beutler Lab

Gene Symbol

Chmp4b

Ensembl Gene

ENSMUSG00000038467

Gene Name

charged multivesicular body protein 4B

Synonyms

chromatin modifying protein 4B, 2010012F05Rik, Snf7-2

MMRRC Submission

039750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154498949-154536703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154499240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 47 (I47V)

Ref Sequence

ENSEMBL: ENSMUSP00000036206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044277]

AlphaFold

Q9D8B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044277
AA Change: I47V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036206
Gene: ENSMUSG00000038467
AA Change: I47V

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:Snf7	24	199	8.5e-61	PFAM
low complexity region	205	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151668

Meta Mutation Damage Score

0.2362

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion die between E7.5 and E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,629,641 (GRCm39)		probably null	Het
4930583I09Rik	T	C	17: 65,141,444 (GRCm39)	N53S	unknown	Het
4933434E20Rik	T	A	3: 89,963,544 (GRCm39)	S67T	probably benign	Het
Abcc8	T	C	7: 45,765,239 (GRCm39)	I1127V	possibly damaging	Het
Abcg3	G	A	5: 105,111,421 (GRCm39)	Q349*	probably null	Het
Adam2	A	G	14: 66,306,007 (GRCm39)	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap11	C	A	14: 78,750,788 (GRCm39)	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,200,953 (GRCm39)	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,365,840 (GRCm39)	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,361,305 (GRCm39)		probably null	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,712 (GRCm39)		probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,989,121 (GRCm39)	D616G	probably damaging	Het
Arvcf	A	G	16: 18,220,319 (GRCm39)	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,364,631 (GRCm39)	R521W	probably damaging	Het
Casp16	A	G	17: 23,771,024 (GRCm39)	I127T	possibly damaging	Het
Cd163	A	G	6: 124,306,547 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,757,337 (GRCm39)	S754T	probably damaging	Het
Cel	A	G	2: 28,446,789 (GRCm39)	Y461H	probably damaging	Het
Col1a1	A	G	11: 94,839,218 (GRCm39)	M989V	unknown	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,266,708 (GRCm39)	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 96,182,436 (GRCm39)		probably null	Het
Dact2	A	T	17: 14,418,175 (GRCm39)	W177R	probably benign	Het
Ddx10	A	G	9: 53,071,253 (GRCm39)	V680A	probably benign	Het
Eif5	T	A	12: 111,508,651 (GRCm39)	D215E	probably benign	Het
Evpl	C	T	11: 116,116,318 (GRCm39)	A817T	probably benign	Het
Fmo6	T	A	1: 162,753,821 (GRCm39)	R131*	probably null	Het
Fsd2	T	C	7: 81,184,857 (GRCm39)	T680A	probably benign	Het
Fsip2	T	C	2: 82,805,289 (GRCm39)	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364 (GRCm39)	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,265,694 (GRCm39)		probably null	Het
Galnt9	T	G	5: 110,744,078 (GRCm39)	I304S	probably benign	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5334	A	C	7: 68,268,725 (GRCm39)		noncoding transcript	Het
Grcc10	A	T	6: 124,717,476 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,734,937 (GRCm39)	T192A	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,111,461 (GRCm39)	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,809,514 (GRCm39)	C426S	probably damaging	Het
Lair1	A	G	7: 4,013,788 (GRCm39)	F153S	probably damaging	Het
Lrp1	T	C	10: 127,392,138 (GRCm39)	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,399,534 (GRCm39)	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,900,580 (GRCm39)	F295S	probably damaging	Het
Meis1	T	A	11: 18,960,608 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,484,579 (GRCm39)	I156K	probably benign	Het
Mmd2	T	C	5: 142,561,105 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,272,840 (GRCm39)	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405 (GRCm38)	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,343,014 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Or12e1	A	T	2: 87,022,247 (GRCm39)	N72I	probably benign	Het
Or2t49	T	A	11: 58,392,885 (GRCm39)	M166L	probably benign	Het
Or4e2	T	C	14: 52,688,296 (GRCm39)	V142A	probably benign	Het
Or5as1	A	T	2: 86,980,150 (GRCm39)	L285*	probably null	Het
Or8d1b	C	T	9: 38,887,706 (GRCm39)	L245F	probably damaging	Het
Pcdha1	T	C	18: 37,065,237 (GRCm39)	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,569,841 (GRCm39)	V329E	probably damaging	Het
Pcf11	A	T	7: 92,312,793 (GRCm39)	D193E	probably benign	Het
Pcsk1	G	C	13: 75,258,947 (GRCm39)	M240I	probably damaging	Het
Pdc	T	A	1: 150,208,892 (GRCm39)	I125N	probably damaging	Het
Plch2	C	T	4: 155,082,729 (GRCm39)	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Riok1	T	A	13: 38,236,926 (GRCm39)	I389N	probably damaging	Het
Ror1	T	A	4: 100,160,135 (GRCm39)	S50R	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Siglec1	G	A	2: 130,915,876 (GRCm39)	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 130,925,932 (GRCm39)	N258S	probably damaging	Het
Slbp	G	A	5: 33,802,946 (GRCm39)	A126V	probably benign	Het
Slc12a4	A	T	8: 106,674,203 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Synpo2	C	A	3: 122,906,203 (GRCm39)	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,397,550 (GRCm39)	T374I	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem190	T	C	7: 4,787,132 (GRCm39)	L112P	probably damaging	Het
Tsc2	C	T	17: 24,816,042 (GRCm39)	R1715Q	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Vmn1r46	T	C	6: 89,953,811 (GRCm39)	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,392,609 (GRCm39)	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,468,164 (GRCm39)	I2799T	probably benign	Het
Zfp105	T	C	9: 122,759,696 (GRCm39)	S456P	probably damaging	Het

Other mutations in Chmp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Chmp4b	APN	2	154,534,601 (GRCm39)	splice site	probably benign
R1460:Chmp4b	UTSW	2	154,534,515 (GRCm39)	missense	possibly damaging	0.93
R4991:Chmp4b	UTSW	2	154,534,545 (GRCm39)	missense	probably benign	0.00
R5932:Chmp4b	UTSW	2	154,533,201 (GRCm39)	missense	probably benign	0.35
R7065:Chmp4b	UTSW	2	154,533,162 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATGCGCCATAGTACGCCAG -3'
(R):5'- TGATGCAAGTGAACCGGCTCAAG -3'

Sequencing Primer
(F):5'- AACTCAGACTCCCGGCTTG -3'
(R):5'- TGAACCGGCTCAAGGAGAC -3'

Posted On

2014-05-14